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NM_002019.4(FLT1):c.2901G>A (p.Ala967=) AND Carcinoma of colon

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000149496.1

Allele description [Variation Report for NM_002019.4(FLT1):c.2901G>A (p.Ala967=)]

NM_002019.4(FLT1):c.2901G>A (p.Ala967=)

Genes:
LOC126861720:BRD4-independent group 4 enhancer GRCh37_chr13:28896366-28897565 [Gene]
FLT1:fms related receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.3
Genomic location:
Preferred name:
NM_002019.4(FLT1):c.2901G>A (p.Ala967=)
HGVS:
  • NC_000013.11:g.28322842C>T
  • NG_012003.1:g.177287G>A
  • NM_002019.4:c.2901G>AMANE SELECT
  • NP_002010.2:p.Ala967=
  • LRG_425t1:c.2901G>A
  • LRG_425:g.177287G>A
  • LRG_425p1:p.Ala967=
  • NC_000013.10:g.28896979C>T
Links:
dbSNP: rs56314249
NCBI 1000 Genomes Browser:
rs56314249
Molecular consequence:
  • NM_002019.4:c.2901G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Carcinoma of colon (CRC)
Synonyms:
Colonic carcinoma; Colon carcinoma
Identifiers:
MONDO: MONDO:0002032; MedGen: C0699790

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000196136Immunobiology Lab; University of Kashmir
no classification provided
untestedsomaticnot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided51not providednot provided

Details of each submission

From Immunobiology Lab; University of Kashmir, SCV000196136.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to not provided.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided51not providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023